The Philadelphia variant of galactokinase in human erythrocytes: Physicochemical and catalytic properties
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference19 articles.
1. Deficiency of erythrocyte galactokinase in a patient with galactose diabetes;Gitzelman;Lancet,1965
2. Galactose 1-phosphate uridyltransferase and galactokinase activity in cultured human diploid fibroblasts and peripheral blood leucocytes. I, Analysis of transferase genotypes by the ratio of the activities of the two enzymes;Tedesco;J Clin Invest,1969
3. Galactokinase: evidence for a new racial polymorphism;Tedesco;Science,1972
4. The Philadelphia variant of galactokinase;Tedesco;Am J Hum Genet,1977
5. Human erythrocyte galactokinase and galactose 1-phosphate uridilyltransferase: a population survey;Tedesco;Am J Hum Genet,1975
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1. [ 13 C ]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis;JIMD Reports;2021-02-03
2. Galactokinase deficiency: lessons from the GalNet registry;Genetics in Medicine;2021-01
3. Novel mutations in 13 probands with galactokinase deficiency;Human Mutation;2000-05
4. Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency;Biochemical Genetics;1991-04
5. Regulation of O6-methylguanine-DNA methyltransferase expression in the Burkitt's lymphoma cell line Raji;Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis;1990-11
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